IER5[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 2322745	NM_016545.5(IER5):c.31G>A (p.Val11Ile)	IER5 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639606	NM_016545.5(IER5):c.39C>T (p.Ile13=)	IER5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3285272	NM_016545.5(IER5):c.175G>A (p.Gly59Ser)	IER5, LOC129932025 (G59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352621	NM_016545.5(IER5):c.265C>T (p.Pro89Ser)	IER5, LOC129932025 (P89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285271	NM_016545.5(IER5):c.278C>T (p.Ala93Val)	IER5, LOC129932025 (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108073	NM_016545.5(IER5):c.304C>T (p.Pro102Ser)	IER5, LOC129932025 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229971	NM_016545.5(IER5):c.380A>G (p.Asp127Gly)	IER5 (D127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612031	NM_016545.5(IER5):c.439C>T (p.Pro147Ser)	IER5 (P147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255577	NM_016545.5(IER5):c.478G>A (p.Gly160Arg)	IER5 (G160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463841	NM_016545.5(IER5):c.506C>T (p.Ser169Phe)	IER5 (S169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108075	NM_016545.5(IER5):c.574A>T (p.Thr192Ser)	IER5, LOC129932026 (T192S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618907	NM_016545.5(IER5):c.587C>T (p.Ala196Val)	IER5, LOC129932026 (A196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108076	NM_016545.5(IER5):c.635C>G (p.Pro212Arg)	IER5, LOC129932026 (P212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485308	NM_016545.5(IER5):c.679G>A (p.Gly227Ser)	IER5, LOC129932026 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343835	NM_016545.5(IER5):c.695C>G (p.Pro232Arg)	IER5, LOC129932026 (P232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108077	NM_016545.5(IER5):c.716T>C (p.Leu239Pro)	IER5, LOC129932026 (L239P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342576	NM_016545.5(IER5):c.758G>A (p.Gly253Glu)	IER5 (G253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108078	NM_016545.5(IER5):c.761A>G (p.Glu254Gly)	IER5 (E254G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108079	NM_016545.5(IER5):c.909G>T (p.Glu303Asp)	IER5 (E303D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592746	NM_016545.5(IER5):c.940C>G (p.Leu314Val)	IER5 (L314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361243	NM_016545.5(IER5):c.955C>T (p.Pro319Ser)	IER5 (P319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403984	NM_016545.5(IER5):c.959G>T (p.Trp320Leu)	IER5 (W320L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403985	NM_016545.5(IER5):c.960G>C (p.Trp320Cys)	IER5 (W320C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	ACBD6, AXDND1 +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814147	GRCh37/hg19 1q25.3(chr1:180818504-181422323)x3	IER5, STX6 +3 more	Copy number gain	not provided	GLikely benign
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685859	GRCh37/hg19 1q25.3(chr1:180651735-181064967)x3	IER5, KIAA1614 +3 more	Copy number gain	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 55